Varaico: Literature-Extracted Genetic Variants

Gene:STAT3
Variant:p.F621L
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STAT3

NM_139276.3:p.F621L

Associated Papers

Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity.

Segura-Tudela A et al.

Journal of Clinical Immunology, 2024

Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.

Dai D et al.

Archives of Disease in Childhood, 2022

34134972 (PubMed )
Supplement: archdischild-2021-322058supp001.pdf

Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.

Asano T et al.

The Journal of Experimental Medicine, 2021

Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

Correction to: Clinical and Immunological Heterogeneity in Japanese Patients with Gain-of-Function Variants in STAT3.

Tanita K et al.

Journal of Clinical Immunology, 2021

The clinical, immunological and genetic features of 12 Chinese patients with STAT3 mutations.

Lin L et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2020

Structural Implications of STAT3 and STAT5 SH2 Domain Mutations.

de Araujo ED et al.

Cancers, 2019

Hyper IgE syndrome associated with novel and recurrent STAT3 mutations: Two case reports.

Deng Y et al.

Medicine, 2019

The Utility of Next-Generation Sequencing for Primary Immunodeficiency Disorders: Experience from a Clinical Diagnostic Laboratory.

Bisgin A et al.

Biomed Research International, 2018

Hyper IgE recurrent infection syndrome in South Asia: is there a different outcome?

de Silva R et al.

Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2018

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

[Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].

Sun JQ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012

Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases.

Kumánovics A et al.

The Journal of Molecular Diagnostics : Jmd, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."